Publication
Title
DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients
Author
Abstract
Background: Prader Willi Syndrome (PWS) is a syndromic form of obesity caused by a chromosomal aberration on chromosome 15q11.2-q13. Patients with a comparable phenotype to PWS not carrying the 15q11.2q13 defect are classified as Prader Willi like (PWL). In literature, PWL patients do frequently harbor deletions at 6q16, which led to the identification of the single-minded 1 (SIM1) gene as a possible cause for the presence of obesity in these patients. However, our previous work in a PWL cohort showed a rather limited involvement of SIM1 in the obesity phenotype. In this paper, we investigated the causal role of the melanin-concentrating hormone receptor 2 (MCHR2) gene in PWL patients, as most of the reported 6q16 deletions also encompass this gene and it is suggested to be active in the control of feeding behavior and energy metabolism. Methods: Copy number variation analysis of the MCHR2 genomic region followed by mutation analysis of MCHR2 was performed in a PWL cohort. Results: Genome-wide microarray analysis of 109 patients with PWL did not show any gene harboring deletions on chromosome 6q16. Mutation analysis in 92 patients with PWL demonstrated three MCHR2 variants: p.T47A (c.139A > G), p.A76A (C.228T > C) and c.*16A > G. We identified a significantly higher prevalence of the C.228T > CC allele in our PWL cohort compared to previously published results and controls of the ExAC Database. Conclusion: Overall, our results are in line with some previously performed studies suggesting that MCHR2 is not a major contributor to human obesity and the PWL phenotype. (C) 2017 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.
Language
English
Source (journal)
Obesity research & clinical practice. - Place of publication unknown
Publication
Place of publication unknown : 2018
ISSN
1871-403X
Volume/pages
12:2(2018), p. 158-166
ISI
000432448200004
Pubmed ID
29066024
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 12.06.2018
Last edited 24.07.2021
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